From Genotype to Phenotype - When the Parents Ask the Question

On a Break with the X: The Role of Repair of Double-Stranded DNA Breaks in X-Linked Disease

“…Subsequent non-allelic homologous recombination between the generated regions of homology results, in turn, in translocations, deletions and inversions, the direct result being a high male/female ratio of germline mutations in the X chromosome (96,102). the idea that diseases traditionally associated in the public mind with female transmission actually may result from a mutation originating in males apparently still presents quite a challenge for genetic counseling for X-linked disease of the affected families (6,32,73,77). the specificities of the genomic rearrangements resulting in some of these common conditions are presented below.…”

Ready, Steady, Go—The Current State of Carriership Status Determination and Prenatal Diagnosis of Haemophilia a in Bulgaria

“…there are several vital points to consider while providing genetic service for any family disease (27,30,42). Some of these concern the heritability of the disease, others are focused on the quality of life of the affected family member and the amount of care they need, and last but no less important is the question of the options of the family in case of pregnancy with high risk of producing an affected child.…”